Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554890324
rs1554890324
1.000 0.080 10 87864470 start lost A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2011 2014
dbSNP: rs587776671
rs587776671
0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0